Repeat Surgery for Patients Operated in Childhood for Early-Onset Esotropia and Suffering from Persistent Residual, Recurrent or Consecutive Strabismus.

BACKGROUND: Patients operated in childhood for early esotropia may suffer from persistent strabismus, whether residual, recurrent, or consecutive, usually with a more complex oculomotor imbalance than in primitive strabismus. HISTORY AND SIGNS: The clinical data are fundamental, in particular, (1) the basic accommodation-free deviation, (2) the horizontal far/near incomitance, (3) the cyclovertical incomitances and/or A or V pattern, and (4) the motility restrictions. In complicated cases, magnetic resonance tomography of the orbits showed the anomalies of the eye and muscle position. The intraoperative findings have to be taken into account, such as (1) the position of the eyes and (2) the muscle extensibility in antagonistic muscle pairs. Twenty-seven patients, aged 16 to 62, were included in the present retrospective study. All of them had repeat surgery between 2013 to 2018, 15 for residual esotropia and 12 for consecutive exotropia. THERAPY AND OUTCOME: In five of the eight patients with posterior fixation sutures on the medial recti, the residual exo or estropia was moderate and could be corrected with a recession or tuck of the lateral recti. In the three other patients with pronounced esotropia, revision of the posterior fixation sutures was carried out. In 19 patients (11 esotropia and 8 exotropia) with only prior conventional surgery, the surgical choice for the residual deviation went electively to the muscles that were most responsible for the motor imbalance, without using posterior fixation sutures. In 4 of these 19 patients, the deviation was small due, in particular, to residual incomitances. For any persistent cyclovertical incomitance, the overacting oblique muscles were recessed, and, in four patients with an A or V pattern, the lateral rectus insertions shifted to the horizontal meridian in the same procedure. DISCUSSION: The two main difficulties are to assess (1) the imbalance of the active and passive muscle force and (2) the surgically induced incomitances.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40-50% of the total mutational load. Here we report a major new BBS locus, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin-like protein. We found BBS10 to be mutated in about 20% of an unselected cohort of families of various ethnic origins, including some families with mutations in other BBS genes, consistent with oligogenic inheritance. In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants.

[Predictive value of teller Acuity Card Test (TACT) and comparison of recognition and grating acuities in premature children with and without residua of Retinopathy of Prematurity (ROP)]. / Zum prognostischen Stellenwert der Gittersehschärfe bei Frühgeborenen mit und ohne Retinopathia praematurorum (RPM) im Lebensalter von 6 Monaten nach errechnetem Geburtstermin.

BACKGROUND: The aim of the study was to evaluate the predictive value of grating acuity as measured by the TAC Test (TACT) at the age of 6 months corrected age and to compare grating and recognition acuities in eyes with and without ROP residua at an age of three to seven years. PATIENTS AND METHODS: The development of visual acuity between 6 months and 3 - 7 years (4.5 years median) was evaluated in 87 eyes of 44 premature children born between the 24 th and 36 th week of gestation, with a birthweight ranging from 550 to 2580 g. Thirteen eyes reached threshold: ROP disease and underwent cryocoagulation. Grating acuity was measured with the TACT at 6 months corrected age and every half year up to three to seven years (median 4.5 years). Recognition acuity was measured with the Sheridan-Gardiner Test (SGT) at 4.5 years (median). TACT-results at 6 months corrected age and 3 - 7 years were compared for the group of patients with normal posterior pole and patients with ROP residua. Furthermore, SGT scores and TACT scores were compared at the 4.5 years follow-up. A visual acuity of >/= 0.1 (3 cy/ degrees ) and >/= 0.4 (13 cy/ degrees ) was considered favourable at the age of 6 months corrected age and 3 - 7 years, respectively. RESULTS: The TACT scores ranged from < 0.03 to 0.2 (< 1.0 to 6.5 cy/ degrees ) at 6 months and from < 0.05 to 2.0 (< 1.6 to 57 cy/ degrees ) at 3 - 7 years. In 77 % of cases the TACT scores at 6 months had predictive value for the further TACT scores and in 78 % for the optotype acuity. There was no difference between eyes with normal posterior pole and eyes with ROP residua concerning the predictive value of non favourable optotype acuity. CONCLUSIONS: Testing grating acuity at 6 months corrected age allows to roughly predict both grating and recognition acuities at the age of 3 - 7 years. No difference between patients with normal posterior pole and patients with ROP residua was found.

Isolated unilateral adduction deficit and ptosis as the presenting features of chronic inflammatory demyelinating polyradiculoneuropathy.

A patient with chronic inflammatory demyelinating polyneuropathy (CIDP) presented with an isolated unilateral adduction deficit and ptosis. Investigations were negative until the onset of limb weakness and fatigue 2 years later. At that time, electroneuromyography, cerebrospinal fluid examination, and magnetic resonance imaging confirmed the diagnosis of CIDP. Thus, ophthalmic signs can precede extremity and bulbar signs with a long latency in CIDP.

[Cerebral sinus thrombosis in Behçet disease: case report and review of the literature]. / Thrombose des sinus veineux cerébraux dans la maladie de Behçet: description d'un cas et revue de la litérature.

BACKGROUND: Behçet's disease is a chronic inflammatory disorder, clinically characterised by multisystemic vasculitis. Primary neurologic involvement in childhood is quite exceptional. We report a case of a child with recurrent venous thrombosis of the dural sinus. Behçet's disease was diagnosed. HISTORY AND SIGNS: A 13-year-old boy from Eritrea was referred to our clinic with severe headaches and photophobia one month after onset. Ophthalmological examination disclosed a bilateral papilledema. Recurrent oral ulcers and pseudo-folliculitis were present. Pathergy test was positive. THERAPY AND OUTCOME: Complementary investigations disclosed an inflammatory syndrome. Computertomography was normal. Cranial magnetic resonance venography disclosed multiple cerebral sinus thrombosis (superior sagittal sinus, sigmoid sinus and lateral left sinus). There was no evidence of infectious, inflammatory or hypercoagulation disorder. A Behçet's disease was diagnosed based on the medical history and clinical examination. Whilst his general health deteriorated rapidly before treatment, he improved quickly after the onset of therapy with immunosuppression (Prednisone and Ciclosporine) in combination with anticoagulation (coumarin/Sintrom). CONCLUSION: Behçet's disease is uncommon and difficult to diagnose in children. Neurologic involvement as a first presentation is rarely described, but might be underestimated. We emphasise, therefore, the systematic application of magnetic resonance venography in children with unclear persistent headaches.